Annotation Summary for Cell Line: EN  

Cell line primary name: EN
Cell line aliases:
Gender: F
Site Primary: endometrium
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_B09_296030
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_A09_293296
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in EN

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 2 69702914 69702914 EN_ENDOMETRIUM 37 3'UTR Del A - rs114699422 uc002sfp.2 Hybrid_Cap...
AAK1 p.541_542QQ>Q 2 69741754 69741756 EN_ENDOMETRIUM 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
AATK p.V250A 17 79100233 79100233 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc010dia.2 MIR657_hsa-mir-... Hybrid_Cap... view
ABCA3 p.L1584P 16 2328038 2328038 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABCC4 p.G487E 13 95839040 95839040 EN_ENDOMETRIUM 37 Missense_Mutation SNP C T rs11568668 uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap... view
ABI1 10 27037384 27037384 EN_ENDOMETRIUM 37 3'UTR SNP A G uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap... view
ABI1 10 27037488 27037488 EN_ENDOMETRIUM 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABL2 p.G69R 1 179102462 179102462 EN_ENDOMETRIUM 37 Missense_Mutation SNP C G uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ABL2 1 179076669 179076669 EN_ENDOMETRIUM 37 3'UTR SNP T C uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ACVR1B p.G111_splice 12 52370109 52370109 EN_ENDOMETRIUM 37 Splice_Site_SNP SNP A G uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap... view
ACVR1C p.E235G 2 158406745 158406745 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap... view
ACVRL1 p.Q343R 12 52309264 52309264 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001rzj.2 ACVRL1_uc001rzk... Hybrid_Cap... view
ADAM12 p.Y128C 10 127824195 127824195 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM12 p.H122R 10 127824213 127824213 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM22 p.A440S 7 87763728 87763728 EN_ENDOMETRIUM 37 Missense_Mutation SNP G T uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM28 8 24211994 24211997 EN_ENDOMETRIUM 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.S623R 4 175898543 175898543 EN_ENDOMETRIUM 37 Missense_Mutation SNP A C uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
ADAMTS18 p.F695fs 16 77356310 77356311 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap...
ADAMTS2 p.G737_splice 5 178559312 178559313 EN_ENDOMETRIUM 37 Splice_Site_Ins Ins - T uc003mjw.2 Hybrid_Cap...
ADAMTS20 p.S880G 12 43828130 43828130 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc010skx.1 ADAMTS20_uc001r... Hybrid_Cap... view
ADAMTS20 p.Y829H 12 43833533 43833533 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc010skx.1 ADAMTS20_uc001r... Hybrid_Cap... view
ADAMTS20 p.K651N 12 43846203 43846203 EN_ENDOMETRIUM 37 Missense_Mutation SNP C A uc010skx.1 Hybrid_Cap... view
ADAMTS20 p.N301K 12 43887021 43887021 EN_ENDOMETRIUM 37 Missense_Mutation SNP A T uc010skx.1 Hybrid_Cap... view
ADAMTSL3 p.G1087* 15 84651639 84651639 EN_ENDOMETRIUM 37 Nonsense_Mutation SNP G T uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
AFF3 2 100167884 100167884 EN_ENDOMETRIUM 37 3'UTR SNP C T uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AGAP2 p.K854E 12 58122158 58122158 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001spq.2 AGAP2_uc001spo.... Hybrid_Cap... view
AIM1 p.G1622fs 6 107009325 107009325 EN_ENDOMETRIUM 37 Frame_Shift_Del Del G - uc003prh.2 AIM1_uc003pri.2... Hybrid_Cap...
AKAP12 p.E1403fs 6 151673735 151673735 EN_ENDOMETRIUM 37 Frame_Shift_Del Del G - uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 EN_ENDOMETRIUM 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP4 X 49955569 49955569 EN_ENDOMETRIUM 37 3'UTR Del G - uc004dow.1 AKAP4_uc004dov.... Hybrid_Cap...
AKAP4 p.T767A X 49957065 49957065 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc004dow.1 AKAP4_uc004dov.... Hybrid_Cap... view
AKAP6 p.P390fs 14 33015028 33015029 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap...
AKAP6 p.L1393I 14 33291196 33291196 EN_ENDOMETRIUM 37 Missense_Mutation SNP C A uc001wrq.2 Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 EN_ENDOMETRIUM 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 p.S2681G 7 91711857 91711857 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
AKAP9 p.Y2987C 7 91714936 91714936 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALPK1 4 113347609 113347610 EN_ENDOMETRIUM 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK3 p.R899G 15 85400058 85400058 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002ble.2 Hybrid_Cap... view
AMHR2 12 53817679 53817679 EN_ENDOMETRIUM 37 5'UTR SNP T C uc001scx.1 AMHR2_uc009zmy.... Hybrid_Cap... view
APAF1 p.R1131C 12 99119253 99119253 EN_ENDOMETRIUM 37 Missense_Mutation SNP C T uc001tfz.2 APAF1_uc001tfy.... Hybrid_Cap... view
APBB1IP p.N277D 10 26822383 26822383 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001iss.2 APBB1IP_uc009xk... Hybrid_Cap... view
APBB1IP p.Q358R 10 26830539 26830539 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001iss.2 APBB1IP_uc009xk... Hybrid_Cap... view
APBB1IP p.G457_splice 10 26851253 26851253 EN_ENDOMETRIUM 37 Splice_Site_SNP SNP A G uc001iss.2 Hybrid_Cap... view
APC p.E2617del 5 112179138 112179140 EN_ENDOMETRIUM 37 In_Frame_Del Del AAG - uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
ARFGEF1 8 68087507 68087507 EN_ENDOMETRIUM 37 3'UTR SNP T C uc003xxl.1 CSPP1_uc003xxi.... Hybrid_Cap... view
ARFGEF1 p.N310fs 8 68200287 68200288 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc003xxo.1 Hybrid_Cap...
ARFGEF1 p.K125fs 8 68211527 68211528 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc003xxo.1 Hybrid_Cap...
ARHGAP29 p.T1064A 1 94640021 94640021 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARHGEF10 p.L553P 8 1851454 1851454 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARHGEF10 p.V1151F 8 1900924 1900924 EN_ENDOMETRIUM 37 Missense_Mutation SNP G T uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARID1A p.K1093fs 1 27097688 27097688 EN_ENDOMETRIUM 37 Frame_Shift_Del Del A - uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap...
ARID1A p.G1847fs 1 27105930 27105931 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - G uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ASPH 8 62538654 62538655 EN_ENDOMETRIUM 37 Intron Ins - A uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATIC p.L231P 2 216197108 216197108 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002vex.3 ATIC_uc010zjo.1... Hybrid_Cap... view
ATP8B1 p.E759V 18 55334333 55334333 EN_ENDOMETRIUM 37 Missense_Mutation SNP T A uc002lgw.2 Hybrid_Cap... view
ATR p.R2109R 3 142188404 142188404 EN_ENDOMETRIUM 37 Silent SNP G A uc003eux.3 ATR_uc003euy.1_... Hybrid_Cap... view
ATR p.L1599P 3 142231158 142231158 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc003eux.3 Hybrid_Cap... view
ATR p.I774fs 3 142274739 142274740 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc003eux.3 Hybrid_Cap...
ATRX X 76763771 76763772 EN_ENDOMETRIUM 37 3'UTR Ins - A uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap...
ATRX p.K1802fs X 76874315 76874316 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap...
ATRX p.K1357fs X 76918920 76918921 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap...
AURKA p.D311G 20 54945638 54945638 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002xxd.1 AURKA_uc002xxe.... Hybrid_Cap... view
BAI3 p.H1069P 6 70048825 70048825 EN_ENDOMETRIUM 37 Missense_Mutation SNP A C uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCL10 p.I46fs 1 85736510 85736511 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc001dkz.2 Hybrid_Cap...
BCL11A p.H818R 2 60687594 60687594 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002sae.1 BCL11A_uc002sab... Hybrid_Cap... view
BCL9 p.P514fs 1 147091501 147091501 EN_ENDOMETRIUM 37 Frame_Shift_Del Del C - uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap...
BCR p.Y316C 22 23524094 23524094 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap... view
BIRC2 p.E440fs 11 102239231 102239232 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc001pgy.2 BIRC2_uc010ruq.... Hybrid_Cap...
BIRC2 p.T612A 11 102248891 102248891 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001pgy.2 BIRC2_uc010ruq.... Hybrid_Cap... view
BIRC6 p.A3062T 2 32726932 32726932 EN_ENDOMETRIUM 37 Missense_Mutation SNP G A uc010ezu.2 Hybrid_Cap... view
BIRC6 p.S3327_splice 2 32733327 32733327 EN_ENDOMETRIUM 37 Splice_Site_SNP SNP G T uc010ezu.2 Hybrid_Cap... view
BIRC6 p.Q3887fs 2 32749990 32749991 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc010ezu.2 Hybrid_Cap...
BIRC6 p.S4668I 2 32828083 32828083 EN_ENDOMETRIUM 37 Missense_Mutation SNP G T uc010ezu.2 Hybrid_Cap... view
BLM p.G512fs 15 91304138 91304139 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap...
BLM p.S648G 15 91306255 91306255 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BLM p.M655T 15 91306277 91306277 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BLNK p.P433H 10 97951802 97951802 EN_ENDOMETRIUM 37 Missense_Mutation SNP G T uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
BMP4 14 54416718 54416718 EN_ENDOMETRIUM 37 3'UTR SNP T C uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap... view
BMPR2 p.I566V 2 203420084 203420084 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
BMPR2 p.S681A 2 203420429 203420429 EN_ENDOMETRIUM 37 Missense_Mutation SNP T G uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
BMX p.E316D X 15549459 15549459 EN_ENDOMETRIUM 37 Missense_Mutation SNP A C uc004cww.2 BMX_uc004cwx.3_... Hybrid_Cap... view
BRCA2 p.S2978fs 13 32953632 32953633 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A rs80359144 uc001uub.1 Hybrid_Cap...
BRD2 p.K787fs 6 32948228 32948229 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - C uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
BRD3 9 136898679 136898679 EN_ENDOMETRIUM 37 3'UTR SNP A T uc004cew.2 Hybrid_Cap... view
BUB1 p.H571R 2 111413480 111413480 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap... view
C15ORF55 p.L256P 15 34640836 34640836 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc010ucc.1 C15orf55_uc010u... Hybrid_Cap... view
CACNA1F p.E711G X 49079284 49079284 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap... view
CACNA1F p.V136A X 49087426 49087426 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap... view
CACNB2 p.Y634H 10 18828570 18828570 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CACNB2 p.S643fs 10 18828598 18828599 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CACNB2 10 18828721 18828722 EN_ENDOMETRIUM 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAD p.Q668R 2 27449159 27449159 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CAMK1G 1 209768307 209768307 EN_ENDOMETRIUM 37 5'UTR SNP A G uc001hhd.2 CAMK1G_uc001hhf... Hybrid_Cap... view
CAMKK2 p.G22fs 12 121712264 121712265 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - C rs891780 uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap...
CASK p.D710Y X 41401971 41401971 EN_ENDOMETRIUM 37 Missense_Mutation SNP C A uc004dfl.3 CASK_uc004dfj.3... Hybrid_Cap... view
CASK p.P239Q X 41519807 41519807 EN_ENDOMETRIUM 37 Missense_Mutation SNP G T uc004dfl.3 CASK_uc004dfk.3... Hybrid_Cap... view
CASP4 11 104822760 104822760 EN_ENDOMETRIUM 37 Intron SNP T C uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CASP8 2 202151401 202151401 EN_ENDOMETRIUM 37 3'UTR SNP T C uc002uxt.1 CASP8_uc002uxp.... Hybrid_Cap... view
CCNB1 p.D76fs 5 68464035 68464036 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc003jvm.2 CCNB1_uc011crd.... Hybrid_Cap...
CCNB1IP1 p.S251R 14 20779792 20779792 EN_ENDOMETRIUM 37 Missense_Mutation SNP T G uc001vwv.2 CCNB1IP1_uc001v... Hybrid_Cap... view
CCNB1IP1 p.F239fs 14 20779825 20779826 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc001vwv.2 CCNB1IP1_uc001v... Hybrid_Cap...
CCR5 p.A129T 3 46414778 46414778 EN_ENDOMETRIUM 37 Missense_Mutation SNP G A uc003cpo.3 CCR5_uc010hjd.2... Hybrid_Cap... view
CDC42BPA p.K985fs 1 227235660 227235661 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap...
CDC73 p.Y11C 1 193091362 193091362 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001gtb.2 Hybrid_Cap... view
CDK10 p.V104A 16 89757929 89757929 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc010cio.2 CDK10_uc002foa.... Hybrid_Cap... view
CDK11B p.N37fs 1 1654148 1654148 EN_ENDOMETRIUM 37 Frame_Shift_Del Del T - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK11B 1 1654066 1654068 EN_ENDOMETRIUM 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK11B p.I545T 1 1572501 1572501 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001agv.1 CDK11B_uc009vkj... Hybrid_Cap... view
CDK2 p.Y269C 12 56365318 56365318 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001sit.3 CDK2_uc001siu.3... Hybrid_Cap... view
CDK5 p.L165M 7 150752451 150752451 EN_ENDOMETRIUM 37 Missense_Mutation SNP G T uc003wir.1 CDK5_uc003wis.1... Hybrid_Cap... view
CDK9 9 130551852 130551853 EN_ENDOMETRIUM 37 3'UTR Ins - T uc004bse.2 Hybrid_Cap...
CDKL3 5 133541548 133541548 EN_ENDOMETRIUM 37 3'UTR Del A - rs2239543 uc011cxm.1 PPP2CA_uc003kze... Hybrid_Cap...
CDKL3 p.S515fs 5 133640173 133640174 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc003kzf.3 CDKL3_uc011cxm.... Hybrid_Cap...
CDKL5 p.S144G X 18600037 18600037 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc004cym.2 CDKL5_uc004cyn.... Hybrid_Cap... view
CDKL5 p.G597C X 18622833 18622833 EN_ENDOMETRIUM 37 Missense_Mutation SNP G T uc004cym.2 CDKL5_uc004cyn.... Hybrid_Cap... view
CDKN2C p.R15fs 1 51436083 51436084 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - G rs66765738 uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap...
CDX2 p.Y207H 13 28539075 28539075 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001urv.2 Hybrid_Cap... view
CEP110 p.Q572R 9 123886273 123886273 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc004bkx.1 CEP110_uc004bky... Hybrid_Cap... view
CEP110 9 123939699 123939699 EN_ENDOMETRIUM 37 3'UTR Del T - rs75910820 uc004bkx.1 CEP110_uc004blb... Hybrid_Cap...
CFI p.W145R 4 110685742 110685742 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc011cft.1 CFI_uc003hzq.2_... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 EN_ENDOMETRIUM 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD1 p.N186fs 5 98236919 98236920 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc003knf.2 Hybrid_Cap...
CHD5 p.V1592A 1 6181558 6181558 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001amb.1 CHD5_uc001alz.1... Hybrid_Cap... view
CHD8 p.Y2275H 14 21853858 21853858 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHD8 p.L1887F 14 21860941 21860941 EN_ENDOMETRIUM 37 Missense_Mutation SNP G A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHD8 p.K305fs 14 21884030 21884031 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHD9 p.S579fs 16 53243678 53243679 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap...
CHEK2 22 29083837 29083837 EN_ENDOMETRIUM 37 3'UTR SNP T C uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CHEK2 p.G572S 22 29083932 29083932 EN_ENDOMETRIUM 37 Missense_Mutation SNP C T uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CHL1 p.F458L 3 403447 403447 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CHL1 p.D1178V 3 447252 447252 EN_ENDOMETRIUM 37 Missense_Mutation SNP A T uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CHN1 p.N140S 2 175742698 175742698 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002uji.2 CHN1_uc010zeq.1... Hybrid_Cap... view
CHRNA5 p.S327T 15 78882712 78882712 EN_ENDOMETRIUM 37 Missense_Mutation SNP T A uc002bdy.2 CHRNA5_uc002bdz... Hybrid_Cap... view
CIITA p.L995P 16 11010235 11010235 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CIT p.T1575A 12 120150114 120150114 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CIT p.N168fs 12 120287990 120287991 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc001txj.1 CIT_uc001txi.1_... Hybrid_Cap...
CLK1 2 201724728 201724729 EN_ENDOMETRIUM 37 Intron Ins - A uc010zhi.1 CLK1_uc002uwd.2... Hybrid_Cap...
CLK2 p.R29* 1 155240684 155240684 EN_ENDOMETRIUM 37 Nonsense_Mutation SNP G A uc001fjy.2 RAG1AP1_uc010pe... Hybrid_Cap... view
CLTC p.E1212fs 17 57760011 57760012 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap...
CLTCL1 p.S131G 22 19241610 19241610 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CNTN5 p.S784G 11 100168392 100168392 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001pga.2 CNTN5_uc001pfz.... Hybrid_Cap... view
CNTN5 p.M825I 11 100169983 100169983 EN_ENDOMETRIUM 37 Missense_Mutation SNP G T uc001pga.2 CNTN5_uc001pfz.... Hybrid_Cap... view
CNTN5 p.T938P 11 100211276 100211276 EN_ENDOMETRIUM 37 Missense_Mutation SNP A C uc001pga.2 CNTN5_uc001pgb.... Hybrid_Cap... view
CNTN6 3 1339718 1339718 EN_ENDOMETRIUM 37 Intron Del T - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CNTN6 p.L450P 3 1371604 1371604 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap... view
CNTN6 p.I1018fs 3 1445067 1445068 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap...
COL1A1 p.V579A 17 48271335 48271335 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002iqm.2 Hybrid_Cap... view
COL1A1 p.R322C 17 48273554 48273554 EN_ENDOMETRIUM 37 Missense_Mutation SNP G A uc002iqm.2 Hybrid_Cap... view
COL3A1 p.Y1410C 2 189875591 189875591 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002uqj.1 Hybrid_Cap... view
CPNE5 p.K249E 6 36733146 36733146 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003omr.1 CPNE5_uc003oms.... Hybrid_Cap... view
CREBBP p.E1573A 16 3786047 3786047 EN_ENDOMETRIUM 37 Missense_Mutation SNP T G uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CRTC1 p.S440fs 19 18879553 18879554 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - C uc010ebv.2 CRTC1_uc002nkb.... Hybrid_Cap...
CSMD3 p.L2813P 8 113314024 113314024 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.S2746G 8 113316980 113316980 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.S345P 8 113988375 113988375 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CSNK1A1 p.M165V 5 148897404 148897404 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003lqw.1 CSNK1A1_uc011dc... Hybrid_Cap... view
CSNK1A1L p.K230fs 13 37678703 37678704 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T rs56252523 uc001uwm.1 Hybrid_Cap...
CSNK1G3 p.P299T 5 122926157 122926157 EN_ENDOMETRIUM 37 Missense_Mutation SNP C A uc003ktl.2 CSNK1G3_uc003kt... Hybrid_Cap... view
CSNK2A2 p.K171R 16 58202515 58202515 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002enc.2 Hybrid_Cap... view
CSPG4 p.E762G 15 75981121 75981121 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002baw.2 Hybrid_Cap... view
CTNNA2 p.V59A 2 79971586 79971586 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CTNNA2 p.L859_splice 2 80874708 80874708 EN_ENDOMETRIUM 37 Splice_Site_SNP SNP A G uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CTTN p.V115A 11 70260700 70260700 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001opu.2 CTTN_uc001opv.3... Hybrid_Cap... view
CUBN p.F2734L 10 16942834 16942834 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001ioo.2 CUBN_uc009xjq.1... Hybrid_Cap... view
CUBN p.F2548fs 10 16949568 16949569 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc001ioo.2 CUBN_uc009xjq.1... Hybrid_Cap...
CXCL9 4 76924675 76924675 EN_ENDOMETRIUM 37 3'UTR SNP T C uc003hjh.1 Hybrid_Cap... view
CXCR4 p.L220M 2 136872852 136872852 EN_ENDOMETRIUM 37 Missense_Mutation SNP G T uc002tuy.2 CXCR4_uc010fnk.... Hybrid_Cap... view
CYLD 16 50820672 50820673 EN_ENDOMETRIUM 37 Intron Ins - A rs117241863 uc002egp.1 CYLD_uc002ego.2... Hybrid_Cap...
CYP17A1 p.K270T 10 104592910 104592910 EN_ENDOMETRIUM 37 Missense_Mutation SNP T G uc001kwg.2 Hybrid_Cap... view
CYP1B1 p.F271S 2 38301720 38301720 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002rqo.2 Hybrid_Cap... view
CYP27B1 12 58156832 58156832 EN_ENDOMETRIUM 37 3'UTR SNP T C uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
CYP27B1 12 58159062 58159062 EN_ENDOMETRIUM 37 Intron SNP C A uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
CYP2B6 p.L363fs 19 41518327 41518327 EN_ENDOMETRIUM 37 Frame_Shift_Del Del C - uc002opr.1 CYP2A7_uc002opo... Hybrid_Cap...
DACH1 p.Q419R 13 72147015 72147015 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc010thn.1 DACH1_uc010tho.... Hybrid_Cap... view
DACH1 p.N359D 13 72204739 72204739 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc010thn.1 DACH1_uc010tho.... Hybrid_Cap... view
DAPK1 p.Y83H 9 90220053 90220053 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DBN1 p.M66V 5 176895174 176895174 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003mgx.2 DBN1_uc003mgy.2... Hybrid_Cap... view
DCLK2 p.K292R 4 151119169 151119169 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc003ilo.3 DCLK2_uc003ilm.... Hybrid_Cap... view
DCLK2 p.G570D 4 151160985 151160985 EN_ENDOMETRIUM 37 Missense_Mutation SNP G A uc003ilo.3 DCLK2_uc003ilm.... Hybrid_Cap... view
DDIT3 p.T60A 12 57911081 57911081 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc009zps.2 MARS_uc001sof.1... Hybrid_Cap... view
DFFB 1 3800376 3800377 EN_ENDOMETRIUM 37 3'UTR Ins - T uc010nzn.1 DFFB_uc001alc.2... Hybrid_Cap...
DGKB 7 14216345 14216346 EN_ENDOMETRIUM 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DICER1 14 95556791 95556792 EN_ENDOMETRIUM 37 3'UTR Ins - T uc001ydw.2 DICER1_uc010avh... Hybrid_Cap...
DICER1 p.F1669fs 14 95562249 95562250 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc001ydw.2 DICER1_uc010avh... Hybrid_Cap...
DIP2C p.G764V 10 410500 410500 EN_ENDOMETRIUM 37 Missense_Mutation SNP C A uc001ifp.2 DIP2C_uc009xhi.... Hybrid_Cap... view
DLL1 6 170597627 170597627 EN_ENDOMETRIUM 37 Intron SNP C A uc003qxm.2 DLL1_uc011ehc.1... Hybrid_Cap... view
DNAH8 p.M1081T 6 38793977 38793977 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003ooe.1 Hybrid_Cap... view
DOCK3 p.H1956R 3 51418764 51418764 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc011bds.1 Hybrid_Cap... view
DST p.T4566fs 6 56362694 56362695 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap...
DST 6 56481787 56481787 EN_ENDOMETRIUM 37 Intron SNP T C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DSTYK p.D442_splice 1 205138290 205138290 EN_ENDOMETRIUM 37 Splice_Site_SNP SNP C A uc001hbw.2 DSTYK_uc001hbx.... Hybrid_Cap... view
DVL1 1 1284448 1284448 EN_ENDOMETRIUM 37 5'UTR SNP C T uc001aer.3 Hybrid_Cap... view
DYRK1A p.S311P 21 38862743 38862743 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap... view
DYRK3 p.V200A 1 206821142 206821142 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001hej.2 DYRK3_uc001hek.... Hybrid_Cap... view
DYRK3 p.I299fs 1 206821440 206821441 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc001hej.2 DYRK3_uc001hek.... Hybrid_Cap...
DYRK4 p.L477P 12 4719390 4719390 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc009zeh.1 DYRK4_uc001qmx.... Hybrid_Cap... view
DYRK4 12 4723001 4723002 EN_ENDOMETRIUM 37 3'UTR Ins - T uc001qmx.2 DYRK4_uc001qmy.... Hybrid_Cap...
EDN1 6 12296132 12296132 EN_ENDOMETRIUM 37 Intron SNP T C uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap... view
EDNRB 13 78472244 78472245 EN_ENDOMETRIUM 37 3'UTR Ins - T uc001vkp.1 EDNRB_uc001vkq.... Hybrid_Cap...
EDNRB 13 78472323 78472323 EN_ENDOMETRIUM 37 3'UTR SNP A C uc001vkp.1 EDNRB_uc001vkq.... Hybrid_Cap... view
EGFR p.N234D 7 55220310 55220310 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc003tqk.2 EGFR_uc003tqh.2... Hybrid_Cap... view
EIF2AK3 p.L181H 2 88895078 88895078 EN_ENDOMETRIUM 37 Missense_Mutation SNP A T uc002stc.3 Hybrid_Cap... view
EIF4A1 p.Y267C 17 7480918 7480918 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002gho.1 EIF4A1_uc002ghr... Hybrid_Cap... view
ELAVL1 p.G58_splice 19 8046072 8046072 EN_ENDOMETRIUM 37 Splice_Site_SNP SNP T C uc002mjb.2 Hybrid_Cap... view
ELF4 p.L80fs X 129208563 129208564 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc004evd.3 ELF4_uc004eve.3... Hybrid_Cap...
EP300 22 41575070 41575070 EN_ENDOMETRIUM 37 3'UTR SNP T C uc003azl.3 Hybrid_Cap... view
EPHA4 2 222290624 222290624 EN_ENDOMETRIUM 37 3'UTR Del T - uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHA4 p.N64fs 2 222429082 222429083 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHA5 p.P561fs 4 66280007 66280007 EN_ENDOMETRIUM 37 Frame_Shift_Del Del G - uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
EPHA8 1 22915907 22915907 EN_ENDOMETRIUM 37 Intron SNP C A uc001bfx.1 EPHA8_uc001bfw.... Hybrid_Cap... view
EPHA8 p.H599fs 1 22923835 22923836 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - C uc001bfx.1 Hybrid_Cap...
EPHA8 p.G644_splice 1 22923971 22923971 EN_ENDOMETRIUM 37 Splice_Site_SNP SNP T C uc001bfx.1 Hybrid_Cap... view
EPHA8 p.L751P 1 22925404 22925404 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001bfx.1 Hybrid_Cap... view
EPHB4 p.V387L 7 100417317 100417317 EN_ENDOMETRIUM 37 Missense_Mutation SNP C G uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
EPO p.I160T 7 100320653 100320653 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003uwi.2 EPO_uc011kkc.1_... Hybrid_Cap... view
EPS15 p.D705N 1 51860059 51860059 EN_ENDOMETRIUM 37 Missense_Mutation SNP C T uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap... view
ERCC5 p.L520fs 13 103504577 103504578 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc001vpu.1 ERCC5_uc010tjb.... Hybrid_Cap...
ERCC6 p.G917fs 10 50681033 50681033 EN_ENDOMETRIUM 37 Frame_Shift_Del Del G - rs2229760 uc001jhs.3 ERCC6_uc009xod.... Hybrid_Cap...
ETV1 p.P138fs 7 13975472 13975473 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - G uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EWSR1 p.A88fs 22 29674037 29674037 EN_ENDOMETRIUM 37 Frame_Shift_Del Del C - uc003aev.2 EWSR1_uc003aes.... Hybrid_Cap...
F8 p.I1213fs X 154158427 154158428 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc004fmt.2 Hybrid_Cap...
F8 p.K1155fs X 154158599 154158600 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc004fmt.2 Hybrid_Cap...
F8 p.S805P X 154159652 154159652 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc004fmt.2 Hybrid_Cap... view
FAM123B p.S837fs X 63410656 63410656 EN_ENDOMETRIUM 37 Frame_Shift_Del Del G - uc004dvo.2 Hybrid_Cap...
FANCA p.C1288R 16 89806474 89806474 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002fou.1 ZNF276_uc010ciq... Hybrid_Cap... view
FANCD2 3 10143062 10143064 EN_ENDOMETRIUM 37 3'UTR Del TTT - rs13068708 uc003bux.1 FANCD2_uc003buy... Hybrid_Cap...
FANCI p.D2G 15 89790883 89790883 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc010bnp.1 FANCI_uc002bnm.... Hybrid_Cap... view
FANCL 2 58386450 58386450 EN_ENDOMETRIUM 37 3'UTR SNP A G uc002rzx.3 VRK2_uc002rzo.2... Hybrid_Cap... view
FANCM p.L866fs 14 45644555 45644556 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc001wwd.3 FANCM_uc010anf.... Hybrid_Cap...
FANCM p.E1472G 14 45653005 45653005 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001wwd.3 FANCM_uc010anf.... Hybrid_Cap... view
FASLG p.V182A 1 172634855 172634855 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001gis.2 FASLG_uc001git.... Hybrid_Cap... view
FBN1 15 48703063 48703063 EN_ENDOMETRIUM 37 3'UTR SNP T C uc001zwx.1 FBN1_uc010beo.1... Hybrid_Cap... view
FBN2 p.E2882G 5 127595241 127595241 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003kuu.2 Hybrid_Cap... view
FBN2 p.N1731I 5 127645683 127645683 EN_ENDOMETRIUM 37 Missense_Mutation SNP T A uc003kuu.2 Hybrid_Cap... view
FBN2 p.D1330G 5 127670521 127670521 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FBN2 p.E1270G 5 127671185 127671185 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FBXW7 p.R473fs 4 153249360 153249361 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap...
FCRL4 p.Q337R 1 157556083 157556083 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001fqw.2 FCRL4_uc010phy.... Hybrid_Cap... view
FER p.I538T 5 108295005 108295005 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003kop.1 FER_uc011cvf.1_... Hybrid_Cap... view
FES p.R143* 15 91430230 91430230 EN_ENDOMETRIUM 37 Nonsense_Mutation SNP C T uc002bpv.2 FES_uc010uqj.1_... Hybrid_Cap... view
FES p.G665V 15 91436593 91436593 EN_ENDOMETRIUM 37 Missense_Mutation SNP G T uc002bpv.2 FES_uc010uqj.1_... Hybrid_Cap... view
FGFR1 8 38279290 38279290 EN_ENDOMETRIUM 37 Intron SNP C T uc003xlp.2 FGFR1_uc011lbo.... Hybrid_Cap... view
FGFR1OP p.S228S 6 167436001 167436001 EN_ENDOMETRIUM 37 Silent SNP T C uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 EN_ENDOMETRIUM 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR2 p.Y587H 10 123256153 123256153 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FH p.L214S 1 241672000 241672000 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001hyx.2 Hybrid_Cap... view
FIGF X 15402245 15402246 EN_ENDOMETRIUM 37 5'UTR Ins - T uc004cwt.1 Hybrid_Cap...
FLCN p.K78fs 17 17131218 17131219 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc002gra.3 PLD6_uc010cpn.2... Hybrid_Cap...
FLI1 p.S86G 11 128638038 128638038 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap... view
FLI1 11 128638217 128638217 EN_ENDOMETRIUM 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.N2312D X 153580038 153580038 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap... view
FLNB p.V1043A 3 58108821 58108821 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLNB p.G1408_splice 3 58112491 58112491 EN_ENDOMETRIUM 37 Splice_Site_SNP SNP T C uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLNC p.N182S 7 128475572 128475572 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLNC p.V1682A 7 128489478 128489478 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLT3 p.L442P 13 28610165 28610165 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001urw.2 FLT3_uc010aao.2... Hybrid_Cap... view
FLT3 p.V197A 13 28626706 28626706 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001urw.2 FLT3_uc010aao.2... Hybrid_Cap... view
FLT4 5 180035183 180035185 EN_ENDOMETRIUM 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FMO4 p.V220A 1 171301879 171301879 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001gho.2 Hybrid_Cap... view
FMO4 p.L341P 1 171303744 171303744 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001gho.2 Hybrid_Cap... view
FMO4 p.G369S 1 171303827 171303827 EN_ENDOMETRIUM 37 Missense_Mutation SNP G A uc001gho.2 Hybrid_Cap... view
FN1 2 216226158 216226158 EN_ENDOMETRIUM 37 3'UTR SNP C A uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FNBP1 p.N328fs 9 132687242 132687243 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap...
FOXO4 p.L399fs X 70321276 70321277 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - G uc004dys.1 FOXO4_uc010nkz.... Hybrid_Cap...
FOXP1 3 71008187 71008187 EN_ENDOMETRIUM 37 3'UTR Del T - uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FZD1 p.V343M 7 90895222 90895222 EN_ENDOMETRIUM 37 Missense_Mutation SNP G A rs3750146 uc003ula.2 Hybrid_Cap... view
GAB1 p.D370G 4 144359667 144359667 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc003ijd.2 GAB1_uc003ije.2... Hybrid_Cap... view
GAB1 p.C374R 4 144359678 144359678 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003ijd.2 GAB1_uc003ije.2... Hybrid_Cap... view
GAK p.P850fs 4 861065 861066 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - G uc003gbm.3 GAK_uc003gbn.3_... Hybrid_Cap...
GAS7 p.D452G 17 9820621 9820621 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002gmg.1 GAS7_uc010vvc.1... Hybrid_Cap... view
GLG1 16 74485841 74485842 EN_ENDOMETRIUM 37 3'UTR Ins - A uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap...
GLI1 p.C275R 12 57860083 57860083 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001snx.2 GLI1_uc009zpq.2... Hybrid_Cap... view
GLI3 p.Q524R 7 42018274 42018274 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GLTSCR1 p.T207A 19 48183046 48183046 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap... view
GLTSCR1 p.P935fs 19 48197891 48197891 EN_ENDOMETRIUM 37 Frame_Shift_Del Del C - uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap...
GPC3 p.Q91R X 133087142 133087142 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc010nrn.1 GPC3_uc004exe.1... Hybrid_Cap... view
GPHN 14 67390929 67390929 EN_ENDOMETRIUM 37 Intron SNP A G uc010tss.1 GPHN_uc001xiw.2... Hybrid_Cap... view
GPR112 p.M340fs X 135426885 135426886 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR112 p.I2415fs X 135443713 135443714 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 EN_ENDOMETRIUM 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRAMD1B p.V243fs 11 123474220 123474221 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - C uc001pyw.2 GRAMD1B_uc001py... Hybrid_Cap...
GRIA3 X 122318386 122318387 EN_ENDOMETRIUM 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 EN_ENDOMETRIUM 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HAPLN1 5 82937252 82937252 EN_ENDOMETRIUM 37 3'UTR Del A - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
HAPLN1 p.T104fs 5 82948434 82948434 EN_ENDOMETRIUM 37 Frame_Shift_Del Del T - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
HDAC2 p.H470R 6 114265539 114265539 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap... view
HDAC6 X 48672787 48672787 EN_ENDOMETRIUM 37 Intron Del G - uc011mmi.1 HDAC6_uc004dks.... Hybrid_Cap...
HDLBP p.I522N 2 242187711 242187711 EN_ENDOMETRIUM 37 Missense_Mutation SNP A T uc002waz.2 HDLBP_uc002wba.... Hybrid_Cap... view
HERC2 15 28356792 28356792 EN_ENDOMETRIUM 37 3'UTR SNP G T uc001zbj.2 HERC2_uc001zbi.... Hybrid_Cap... view
HGF 7 81381366 81381366 EN_ENDOMETRIUM 37 Intron SNP C A uc003uhl.2 HGF_uc003uhm.2_... Hybrid_Cap... view
HIF1A p.L444S 14 62204883 62204883 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 EN_ENDOMETRIUM 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK1 p.D917G 1 114511249 114511249 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001eem.2 HIPK1_uc001eel.... Hybrid_Cap... view
HIPK1 1 114514587 114514587 EN_ENDOMETRIUM 37 Intron SNP T C uc001eem.2 HIPK1_uc001eel.... Hybrid_Cap... view
HIPK1 p.A1066fs 1 114515697 114515698 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - C uc001eem.2 HIPK1_uc001een.... Hybrid_Cap...
HIPK2 p.V94E 7 139416553 139416553 EN_ENDOMETRIUM 37 Missense_Mutation SNP A T uc003vvf.3 HIPK2_uc003vvd.... Hybrid_Cap... view
HIPK2 p.L59fs 7 139416659 139416659 EN_ENDOMETRIUM 37 Frame_Shift_Del Del G - uc003vvf.3 HIPK2_uc003vvd.... Hybrid_Cap...
HNF1A 12 121434630 121434631 EN_ENDOMETRIUM 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HNF1B p.V534A 17 36059134 36059134 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002hok.3 HNF1B_uc010wdi.... Hybrid_Cap... view
HNF1B p.H336fs 17 36091625 36091625 EN_ENDOMETRIUM 37 Frame_Shift_Del Del G - uc002hok.3 HNF1B_uc010wdi.... Hybrid_Cap...
HNRNPH1 p.S310fs 5 179044643 179044644 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc003mkf.3 HNRNPH1_uc011dg... Hybrid_Cap...
HORMAD1 p.L29S 1 150689706 150689706 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001evk.1 HORMAD1_uc001ev... Hybrid_Cap... view
HOXC11 p.M1T 12 54367027 54367027 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001sem.2 Hybrid_Cap... view
HOXD10 p.L279P 2 176983772 176983772 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002ukj.2 Hybrid_Cap... view
HSP90AA1 p.K681N 14 102549449 102549449 EN_ENDOMETRIUM 37 Missense_Mutation SNP C A uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap... view
HSP90AA1 p.I402V 14 102551161 102551161 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap... view
HSP90B1 p.Y678C 12 104340401 104340401 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap... view
HSP90B1 p.E791del 12 104341188 104341190 EN_ENDOMETRIUM 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
HSP90B1 12 104341589 104341590 EN_ENDOMETRIUM 37 3'UTR Ins - T uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
HSPA4 p.E735fs 5 132439602 132439603 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - A uc003kyj.2 Hybrid_Cap...
ICK p.H74R 6 52897388 52897388 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003pbh.2 ICK_uc003pbi.2_... Hybrid_Cap... view
IDH1 p.F32fs 2 209116180 209116180 EN_ENDOMETRIUM 37 Frame_Shift_Del Del A - uc002vcs.2 IDH1_uc002vct.2... Hybrid_Cap...
IGF1R p.L133P 15 99251094 99251094 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
IGF1R p.K630R 15 99459253 99459253 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
IGFBP5 2 217541460 217541461 EN_ENDOMETRIUM 37 3'UTR Ins - G uc002vgj.3 Hybrid_Cap...
IKBKE p.E355A 1 206652357 206652357 EN_ENDOMETRIUM 37 Missense_Mutation SNP A C uc001hdz.1 IKBKE_uc009xbv.... Hybrid_Cap... view
IKBKE p.D656G 1 206666633 206666633 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001hdz.1 IKBKE_uc009xbv.... Hybrid_Cap... view
IL1R2 p.K230fs 2 102638649 102638649 EN_ENDOMETRIUM 37 Frame_Shift_Del Del A - uc002tbm.2 IL1R2_uc002tbn.... Hybrid_Cap...
IL21R p.G514fs 16 27460529 27460530 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - C uc002doq.1 IL21R_uc002dor.... Hybrid_Cap...
ILK 11 6630029 6630029 EN_ENDOMETRIUM 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INPP5D p.Y556H 2 234078685 234078685 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc010zmo.1 INPP5D_uc010zmp... Hybrid_Cap... view
INSR p.R926W 19 7132235 7132235 EN_ENDOMETRIUM 37 Missense_Mutation SNP G A uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
IRAK3 p.I176fs 12 66605315 66605316 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc001sth.2 IRAK3_uc010ssy.... Hybrid_Cap...
IRAK3 12 66642098 66642098 EN_ENDOMETRIUM 37 3'UTR SNP T C uc001sth.2 IRAK3_uc010ssy.... Hybrid_Cap... view
ITGA10 p.V274A 1 145532177 145532177 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001eoa.2 NBPF10_uc001emp... Hybrid_Cap... view
ITGA7 p.K428fs 12 56091730 56091731 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc001shh.2 ITGA7_uc001shg.... Hybrid_Cap...
ITGB6 p.L551F 2 160993954 160993954 EN_ENDOMETRIUM 37 Missense_Mutation SNP G A uc002ubh.2 ITGB6_uc010fou.... Hybrid_Cap... view
ITIH5L p.F295L X 54800534 54800534 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc004dtj.2 Hybrid_Cap... view
ITIH5L p.Y267F X 54800617 54800617 EN_ENDOMETRIUM 37 Missense_Mutation SNP T A uc004dtj.2 Hybrid_Cap... view
ITK p.Y446H 5 156671375 156671375 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003lwo.1 Hybrid_Cap... view
ITPR1 p.R1460fs 3 4738955 4738955 EN_ENDOMETRIUM 37 Frame_Shift_Del Del G - uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap...
ITPR1 p.P1638T 3 4752105 4752105 EN_ENDOMETRIUM 37 Missense_Mutation SNP C A uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.A2463V 12 26564264 26564264 EN_ENDOMETRIUM 37 Missense_Mutation SNP G A uc001rhg.2 ITPR2_uc009zjg.... Hybrid_Cap... view
ITPR2 p.L2417fs 12 26568292 26568292 EN_ENDOMETRIUM 37 Frame_Shift_Del Del A - uc001rhg.2 ITPR2_uc009zjg.... Hybrid_Cap...
ITPR2 p.Y1878* 12 26639214 26639214 EN_ENDOMETRIUM 37 Nonsense_Mutation SNP A T uc001rhg.2 ITPR2_uc009zjg.... Hybrid_Cap... view
ITPR2 p.G1706S 12 26648151 26648151 EN_ENDOMETRIUM 37 Missense_Mutation SNP C T uc001rhg.2 ITPR2_uc009zjg.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 EN_ENDOMETRIUM 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK1 p.L799P 1 65309754 65309754 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
JAK1 p.C657R 1 65312350 65312350 EN_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
JAK1 p.K142fs 1 65339110 65339111 EN_ENDOMETRIUM 37 Frame_Shift_Ins Ins - T uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap...
JAK1 p.D82A 1 65344792 65344792 EN_ENDOMETRIUM 37 Missense_Mutation SNP T G uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
JAK2 p.F537L 9 5070020 5070020 EN_ENDOMETRIUM 37 Missense_Mutation SNP T C uc010mhm.2 JAK2_uc003ziw.2... Hybrid_Cap... view